Contents

• EDITORS, AUTHORS, REVIEWERS AND AFFILIATIONS
• FOREWORD
• THE NEED FOR GUIDELINES AND THEIR IMPLEMENTATION
• CLASS OF RECOMMENDATION
• CHAPTER 1. Genetic basis, pathophysiology and diagnosis of thalassaemias
  Authors: Raffaella Origa and John Porter.
  • Haemoglobin Types
  • Globin genes and globin synthesis
  • The thalassaemias
  • β thalassaemia
  • Pathophysiology
  • Clinical diagnosis
  • Haematological diagnosis
  • Qualitative and quantitative haemoglobin analysis
  • Molecular analysis
  • Correlation genotype-phenotype
  • β structural haemoglobin variants relevant to thalassaemia management
  • α thalassaemia
  • References
• CHAPTER 2. Blood transfusion
  Authors: Sara Trompeter and Aurelio Maggio.
  • Aims of blood transfusion
  • Haemovigilance
  • Blood donation
  • Blood component specification
  • Compatibility Testing
  • Criteria for initiating transfusion therapy
  • Transfusion thresholds and frequency
  • Volume to be transfused
  • Rate of transfusion
  • Transfusion and the spleen
  • Adverse Reactions
  • References
• CHAPTER 3. Iron overload: Pathophysiology, diagnosis and monitoring
  Authors: John Porter, Antonios Kattamis, and Maria Domenica Cappellini.
  • The Rate of Iron Loading
  • Toxicity from Iron Overload
  • Monitoring of Iron Overload
  • References
• CHAPTER 4. Iron chelation
  Authors: John Porter, Antonios Kattamis, and Maria Domenica Cappellini.
  • Aims of iron chelation therapy
  • Sources of chelatable (chelateable) iron
  • Chemical and pharmacological properties of licensed chelators
  • Practical prescribing of individual chelators
  • Recommended treatment regimens for DFO monotherapy
  • Deferasirox (Exjade^®, Asunra^®; DFX)
  • Combination therapies
  • Appendix 1
  • Appendix 2
  • Appendix 3
  • References
• CHAPTER 5. Cardiovascular disease
  Authors: Dimitrios Farmakis, Malcolm Walker, and John Porter.
  • Introduction
  • Pathophysiology
  • Forms and phenotypes
  • Assessment and monitoring
  • Prevention and treatment
  • Cardioactive therapy
  • References
• CHAPTER 6. Liver disease
  Authors: John Koskinas, Maria Tampaki, Geoffrey Dusheiko, and John Porter.
  • Introduction
  • B) Viral Hepatitis
  • C) Hepatocellular Carcinoma
  • References
• CHAPTER 7. Growth abnormalities
  Authors: Vincenzo De Sanctis, Ashraf. T. Soliman, Nikos Skordis, Ali Taher, and John Porter.
  • Introduction
  • Assessment of personal history in a thalassaemic child with short stature or poor growth velocity/year
  • Diagnosis and investigations
  • References
• CHAPTER 8. Endocrine Disease
  Authors: Vincenzo De Sanctis, Ashraf T. Soliman, Nikos Skordis, Ali Taher, and John Porter.
  • Introduction
  • Aims of blood transfusion
  • Delayed Puberty and Hypogonadism
  • Treatment
  • Hypothyroidism
  • Laboratory tests
  • Assessment of thyroid function
  • Clinical examination
  • Treatment
  • Impaired Glucose Tolerance (IGT) and Insulin-dependent Diabetes Mellitus (IDDM)
  • Pathogenesis of IDDM in β thalassaemia patients
  • Diagnosis
  • Management
  • Hypoparathyroidism (hypoPT)
  • Signs and symptoms
  • Investigations
  • Management
  • Dietary steps
  • Adrenal Insufficiency
  • Diagnosis
  • Laboratory tests
  • Treatment
  • References
• CHAPTER 9. Infectious disease
  Authors: Yesim Aydinok, Constantina Politis, and Ali Taher.
  • Introduction
  • Therapy-Related Risks of Infections in TDT and Preventive Measures
  • Infectious Agents in Thalassaemia – Diagnosis and Treatment
  • References
• CHAPTER 10. Bone disease
  Authors: Nicos Skordis, Andreas Kyriakou, Vincenzo De Sanctis, Ali Taher, and John Porter.
  • Introduction
  • Pathogenesis
  • Bone Markers
  • References
• CHAPTER 11. Dental Care
  Authors: Navdeep Kumar, Faiez N Hattab, and John Porter.
  • Oro-facial Features
  • Risk Assessment for Delivery of Dental Care
  • Practical Management
  • References
• CHAPTER 12. Splenomegaly and splenectomy
  Authors: Shahina Daar, Ali Taher, Perla Eleftheriou, and John Porter.
  • Introduction
  • Steps that can be taken to reduce or delay the onset of splenomegaly include
  • Indications for Splenectomy
  • Splenectomy and Peri-operative Complications
  • Concomitant Cholecystectomy
  • Adverse Events of Splenectomy
  • Immune status of patient
  • Chemoprophylaxis in splenectomised patients (summarized in Fig 1)
  • References
• CHAPTER 13. Fertility and Pregnancy
  Authors: Nikos Skordis, Vincenzo De Sanctis, and Seni Subair.
  • Introduction
  • Management of Subfertility in Females
  • Pre-Pregnancy Counselling
  • Review of medications
  • Risks Associated with Pregnancy
  • Management of Pregnancy
  • Managing delivery
  • Postpartum care
  • References
• CHAPTER 14. Lifestyle and Quality of Life
  Authors: Michael Angastiniotis, Aurelio Maggio, and John Porter.
  • Introduction
  • Exercise and Participation in Sports
  • Education
  • Employment
  • Marriage and Reproductive Life
  • Nutrition
  • Anti-oxidant therapy
  • Supportive Treatments
  • Quality of Life
  • References
• CHAPTER 15. Psychological support
  Authors: Robert Yamashita, Dru Haines, Lauren Mednick, Wendy Murphy, Michael Angastiniotis, and John Porter.
  • The Challenge of Psychological Support: What Does the Literature Tell Us?
  • Practical Considerations
  • References
• CHAPTER 16. Haematopoietic Stem Cell Transplantation for Thalassaemia
  Authors: Pietro Sodani, Lena Oevermann, Emanuele Angelucci, and John Porter.
  • Introduction
  • References
• CHAPTER 17. Gene therapy for thalassaemia
  Authors: George Kaltsounis, Penelope-Georgia Papayanni, Evangelia Yannaki, Ali Taher, Andreas Kulozik, and John Porter.
  • Introduction
  • Gene therapy by gene addition
  • Gene therapy by Gene editing
  • Gene therapy clinical trials
  • References
• CHAPTER 18. Novel and Emerging Therapies – Pharmaceutical approaches
  Authors: Rayan Bou-Fakhredin, Ali T. Taher, and Maria Domenica Cappellini.
  • Targeting Ineffective Erythropoiesis and Iron Dysregulation
  • References
  • ANNEX I
• CHAPTER 19. The value of patients’ engagement
  Authors: Androulla Eleftheriou, Michael Angastiniotis, John Porter, Ali Taher, Panos Englezos, Shobha Tuli, Riyad Elbard, George Constantinou, Anton Skafi, Loris Brunetta, Roanna Maharai, and Eleni Michalaki.
  • Introduction
  • How engaging patients can be of benefit
  • Conclusions
  • References
• CHAPTER 20. Multidisciplinary Care and Reference Centres in addressing haemoglobin disorders
  Authors: Androulla Eleftheriou, Michael Angastiniotis, Ali Taher, Prof. Dr. A Alassaf, and John Porter.
  • Introduction
  • The place and role of the patient in the MDC of his/her condition
  • Reference or Experts’ Centres for Haemoglobin Disorders
  • Discussion and Conclusions
  • References
• Monitoring - Summary Table